R41H (p.Arg41His) variant of LMNA (Prelamin-A/C)
R41H (p.Arg41His) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Charcot-Marie-Tooth disease type 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R41H (p.Arg41His) variant details
- p.Arg41His
- rs1060502215
- ClinGen CA16609885
- ClinVar RCV000457713
- ClinVar RCV000994129
- Pathogenic
- Charcot-Marie-Tooth disease type 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Charcot-Marie-Tooth disease type 2; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)